Research Article Survey on Knowledge, Attitudes, and ...downloads.hindawi.com/journals/bmri/2014/418416.pdf · for breast and colorectal cancer during ... ination and implementation

Research ArticleSurvey on Knowledge, Attitudes, and Training Needsof Italian Residents on Genetic Tests for Hereditary Breastand Colorectal Cancer

Nikola Panic,1,2 Emanuele Leoncini,1 Paolo Di Giannantonio,1

Benedetto Simone,1 Andrea Silenzi,1 Anna Maria Ferriero,1 Roberto Falvo,1

Giulia Silvestrini,1 Chiara Cadeddu,1 Carolina Marzuillo,3 Corrado De Vito,3

Walter Ricciardi,1 Paolo Villari,3 and Stefania Boccia1,4

1 Section of Hygiene, Department of Public Health, Institute of Public Health, Universita Cattolica del Sacro Cuore,Largo F. Vito 1, 00168 Rome, Italy

2 University Clinical-Hospital Center “Dr. Dragisa Misovic-Dedinje”, Milana Tepica 1, 11000 Belgrade, Serbia3 Department of Public Health and Infectious Diseases, Sapienza University of Rome, Piazzale Aldo Moro 5, 00185 Rome, Italy4 IRCCS San Raffaele Pisana, Via della Pisana 235, 00163 Rome, Italy

Correspondence should be addressed to Stefania Boccia; [email protected]

Received 27 January 2014; Revised 27 May 2014; Accepted 2 June 2014; Published 23 June 2014

Academic Editor: Paolo Boffetta

Copyright © 2014 Nikola Panic et al. This is an open access article distributed under the Creative Commons Attribution License,which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Objectives.Theaim of the study was to assess knowledge and attitudes ofmedical residents working inUniversita Cattolica del SacroCuore, Rome, Italy, on genetic tests for breast and colorectal cancer.Methods.We distributed self-administered questionnaire to theresidents. Logistic regression models were used to evaluate the determinants of knowledge and attitudes towards the tests. Results.Of 754 residents, 364 filled in questionnaire. Around 70% and 20% answered correctly >80% of questions on breast and colorectalcancer tests, respectively. Knowledge on tests for breast cancer was higher among residents who attended course on cancer genetictesting during graduate training (odds ratio (OR): 1.72; 95% confidence interval (CI): 1.05–2.82) and inversely associated with malegender (OR: 0.55; 95%CI: 0.35–0.87). As for colorectal cancer, residentsweremore knowledgeable if they attended courses on cancergenetic testing (OR: 2.08; 95% CI: 1.07–4.03) or postgraduate training courses in epidemiology and evidence-based medicine (OR:1.95; 95% CI: 1.03–3.69). More than 70% asked for the additional training on the genetic tests for cancer during the specializationschool. Conclusion. The knowledge of Italian residents on genetic tests for colorectal cancer appears to be insufficient. There is aneed for additional training in this field.

1. Introduction

Since the first global look at the content of the humangenetic code, publishedmore than a decade ago [1], it becameclear that the implementation of genomic medicine hasthe potential of bringing clinically important advances, torival those of any other major discovery in the history ofmedicine [2]. In this context, doctors have been envisagedas the key players in properly incorporating emerging DNAtechnologies in the health care system [3, 4], leading to callsfor enhanced genomic education for healthcare professionals.

Nevertheless, several studies conducted in USA, Europe, andCanada showed unsatisfactory level of clinicians’ ability touse genetic tests in clinical care [3–5].

Recent research showed that providing genetic educa-tional outreach to doctors has a positive impact in improvingtheir competency and confidence in the use of genetic testingto guide prevention or treatment decisions [6–8]. Althoughthe importance of genomic education for health care profes-sionals has been recognized even before completion of theHuman Genome Project [9], many physicians do not feel tohave a proper training and knowledge [3, 4].

Hindawi Publishing CorporationBioMed Research InternationalVolume 2014, Article ID 418416, 7 pageshttp://dx.doi.org/10.1155/2014/418416

2 BioMed Research International

Genetic tests for breast and colorectal cancer, if usedappropriately, have been demonstrated to be efficacious andcost-effective [10]. However, Marzuillo et al. reported a sig-nificant lack of knowledge on BRCA1/2 and APC tests amongItalian medical doctors [5], irrespective of their specialty.Along similar lines, we conducted survey on Italian doctorsattending postgraduate medical schools in order to examinethe level of education they had received on genetic testsfor breast and colorectal cancer during their recent medicaltraining.

More specifically, our objective was to assess knowledge,attitudes, and educational needs of Italian residents relatedto the use of genetic tests for breast and colorectal cancer,particularly the BRCA1/2 and APC tests, irrespective of thefield of specialization.

2. Methods

A self-administered anonymous questionnaire was dis-tributed in 2011 to all the residents enrolled at the GemelliTeachingHospital of the Universita Cattolica del Sacro Cuorein Rome, Italy. The total number of eligible participants was754, and the number of surveyed postgraduate schools was43.

A similar questionnaire was previously used and vali-dated in a study conducted on a sample of Italian medicalspecialists [5]. It comprises questions designed to assess (i)demographic and professional characteristics; (ii) knowledgeand attitudes towards genetic tests for hereditary breast andcolorectal cancer; (iii) self-assessed level of knowledge andtraining needs.

Knowledge of genetic tests for breast and colorectalcancer was investigated with three questions, each using athree-point options Likert scale (“agree,” “uncertain,” and“disagree”). Additional four multiple-choice questions weredesigned to evaluate the residents’ knowledge of prevalenceof hereditary breast cancer and inherited forms of colorectalcancer and of penetrance of BRCA1/BRCA2 and APC muta-tions (two each).

Attitudes towards genetic tests for breast and colorectalcancers were assessed with seven different questions, alsousing a Likert scale evaluation.

The final set of questions required the residents to assesstheir own perceived level of knowledge according to afour-answer format (“inadequate,” “sufficient,” “good,” and“excellent”), and training needs (“yes/no” answer).

2.1. Statistical Analysis. A descriptive analysis was conductedto report demographic, social, and professional characteris-tics of responding residents. For the questions on knowledgeand attitudes of residents towards genetic testing for breastand colorectal cancer, we calculated the proportions ofcorrect answers (plus 95%confidence intervals (CI)).We con-sidered residents who gave 80% correct answers for each formof hereditary cancer as knowledgeable. A general positiveattitude towards predicative genetic testing was defined as thepresence of a positive attitude in at least 70% of the questionsassessing the attitude. Variables associated (𝑃 value of <0.20)with a positive outcome (satisfactory knowledge/attitude)

from the univariate analysis were included in themultivariateconditional logistic regression model. A backward elimina-tion procedure was used for the multivariate analysis. Datawere analyzed using Stata software (StataCorp. 2009. StataStatistical Software: Release 11. College Station, TX: StataCorpLP).

3. Results

Of the initial number of 754 eligible for inclusion, 364residents responded (overall response rate 48.3%).

The demographic and professional characteristics ofresponding residents are reported in Table 1. Among respon-dents, 61.2% (222/364) were female; the age mode was of 28-29 years (151/364, 41.6%) and 63.1% (224/364) have had theirspecialization associated with clinical activity.

Majority of included residents (67.3%, 245/364) answeredcorrectly at least 80% of questions on genetic tests for breastcancer, prevalence of hereditary forms, and penetrance ofBRCA mutations. Residents knowledgeable on genetic testsfor colorectal cancer, prevalence of hereditary forms, andpenetrance of APC mutations were 21.2% (77/364). Table 2reports the correct answer rates in relation to each particularquestion. The knowledge on test for breast cancer washigher among residents who reported having attended aspecific cancer course on genetic testing during their graduatetraining (OR: 1.72; 95% CI: 1.05–2.82) (Table 3). Male genderwas inversely associated with knowledge on tests for breastcancer (OR: 0.55; 95%CI: 0.35–0.87) (Table 3). Residents whoattended a specific cancer course on genetic testing duringthe graduate training (OR: 2.08; 95% CI: 1.07–4.03) as thosewho took postgraduate training courses in epidemiology andevidence-based medicine (EBM) (OR: 1.95; 95% CI: 1.03–3.69) showed higher knowledge on test for colorectal cancer(Table 3).

Residents’ attitudes towards genetic testing for breast andcolorectal cancer are reported in Table 4. A total of 45.6%showedpositive attitude in at least 70%of questions. Less thanhalf appeared to comply with principles of efficacy (attitudenumber 2, 48.3%) and cost-effectiveness (attitude number 3,46.3%) in this field (Table 4).Whenwe analyzed predictors ofpositive attitude towards genetic testing; only personal familyhistory of breast and/or colorectal cancer (OR: 1.74; 95% CI:1.11–2.71) appeared to be significantly associated.

Table 5 reports the self-estimated level of knowledge ongenetic tests for breast and colorectal cancer and train-ing needs of participants. More than half of our sample(178/364, 50.6%) described their knowledge as poor and84.6% (296/364) declared that they did not feel qualified toprescribe genetic tests (Table 5). Conversely, 87.8% (309/364)of them declared that is was important for them to increasetheir knowledge in this field (Table 5). The majority ofresidents felt that more training time should be allotted togenetic testing during medical studies (289/364, 82.3%) orspecialization school (263/364, 74.7%) or through specificpostgraduate courses (289/229, 65.4%).

BioMed Research International 3

Table 1: The demographic and professional characteristics of responding residents (𝑛 = 364).

Variables 𝑛 %Gender

Male 141 38.8%Female 222 61.2%

Age (years)<28 78 21.5%28-29 151 41.6%30-31 84 23.1%≥32 50 13.8%

Professional areai

Medicine 147 40.4%Surgery 47 12.9%Others 170 46.7%

Clinical activityNo 131 36.9%Yes 224 63.1%

Exposure to cancer genetic testing during graduate trainingNo 95 26.7%Yes 261 73.3%

Postgraduate training courses in epidemiology and EBMNo 292 83.0%Yes 60 17.1%

English language knowledgeVery low 9 2.5%Low 38 10.6%Intermediate 130 36.3%Good 153 42.7%Excellent 28 7.8%

Hours per week dedicated to continuing medical education<1 48 13.5%1–5 212 59.4%6–10 73 20.5%>10 24 6.7%

Patient request of cancer genetic tests in the previous year∗

No 162 74.0%Yes 57 26.0%

Personal or family history of breast cancerNo 292 81.8%Yes 65 18.2%

Personal or family history of colorectal cancerNo 285 80.1%Yes 71 19.9%

Promotional material about breast cancer received in the previous yearNo 311 86.9%Yes 47 13.1%

Promotional material about colorectal cancer received in the previous yearNo 325 91.0%Yes 32 9.0%

EBM: evidence based medicine.iList of specializations according to each area is available in Supplementary Material S1 available online at http://dx.doi.org/10.1155/2014/418416.∗The number of responders was 219 as only physicians with clinical activity were included.


Table 2: Knowledge of residents (𝑛 = 364) on genetic tests for breast and colorectal cancer, prevalence of hereditary forms, and penetranceof BRCA1/2 and APCmutations.

Number ofresponders tothe question

% of correctanswers CI 95%

BRCA1/2Genetic tests for BRCA1/BRCA2 mutations are able to identify patients at high risk to developbreast cancer (agree, uncertain, disagree) 357 93.3 90.2–95.6

The percentage of breast cancer cases associated with mutations in BRCA1/BRCA2 is 1–10%,15–35%, >35% 354 42.9 37.7–48.3

The absolute risk of developing breast cancer in presence of BRCA1/BRCA2 mutations is<10%, 40–80%, 100% 356 80.3 75.8–84.3

Women with breast cancer and strong family history should perform BRCA1/BRCA2 testing(agree, uncertain, disagree) 356 78.7 74.0–82.8

Scientific evidence recommend for BRCA1/BRCA2 positive women clinical and instrumentalsurveillance starting from the age of 25 (agree, uncertain, disagree) 358 84.4 80.2–88.0

APCGenetic tests for APC mutations are able to identify patients who will develop colorectalcarcinoma (agree, uncertain, disagree) 355 77.7 73.1–82.0

The percentage of colon cancer cases associated with APC mutations is <5%, 10–25%, >40% 352 31.8 27.0–37.0The absolute risk of developing colorectal cancer in presence of APC mutations is <10%,40–80%, 100% 351 27.9 23.3–32.9

APC testing is recommended for 10–12 years old children with a first degree relative withknown APC mutation (agree, uncertain, disagree) 357 57.4 52.1–62.6

Scientific evidence recommend for APC positive individuals periodic colonoscopy startingfrom the age of 10–15 (agree, uncertain, disagree) 356 55.9 50.6–61.1

Correct answers are in bold.

4. Discussion

Our study reports unsatisfactory level of residents’ knowledgeon genetic tests for colorectal cancer and on prevalence ofhereditary forms and penetrance ofAPCmutations.We iden-tified female gender and attendance to cancer genetic testingcourses during graduate training to be predictors of a betterknowledge of genetic tests for breast cancer. An attendanceto cancer genetic testing courses during the graduate trainingand postgraduate training courses in epidemiology end EBMwere associated with better knowledge on genetic tests oncolorectal cancer. Although the vast majority of participantsrecognized the important role of genetic tests in prevention,as well as the need for evidence-based guidelines, complexprevention strategies, and genetic counseling, the principlesof efficacy and cost-effectiveness appear to be not so widelyaccepted. The self-assessment revealed that participants arenot satisfied with their own knowledge of genetic test andthat they do not feel qualified to prescribe them. However,the need for training in this field during graduate andpostgraduate studies was clearly recognized.

Some surveys already reported lack of knowledge amongmedical doctors on genetic tests for cancer [5, 11–20]. Nev-ertheless, most of these were conducted among specialists,while only one referred to residents [18]. Younger age [20] andrecent graduation frommedical school [21], aswell as being inmedical practice less than 10 years [11], have been previouslyreported as predictors of better knowledge on genetic testsand increased confidence in using them in everyday practice.

Marzuillo et al. [5] previously reported insufficient knowl-edge on genetic test on breast and colorectal cancer amongItalian specialists. Although our study showed relativelymoresatisfactory results in relation to tests for breast cancer,knowledge on genetic tests on colorectal cancer amongresidents in our study was also fairly low, indicating the needfor further improvement in specialists formatting process.Finally, our results clearly pointed the need for additionaleducation in field of genomics as exposure to genetic testduring graduate training as well as postgraduate trainingcourses in epidemiology and EBM were associated withhigher knowledge on genetic test for breast and colorectalcancer.

Attitude of medical doctors is crucial for the dissem-ination and implementation of new medical technologies.Although residents in our study have shown high rates ofsome individual positive attitudes towards genetic testing,only a minority showed positive attitude in all issues. Fur-thermore, the majority of residents do not recognize theimportance of the principles of efficacy and cost-effectivenessin genetic testing. Similar results were obtained from thesurvey on Italian specialists, who also did not show cost-conscious behavior regarding genetic tests [5]. This couldlead to introducing of genetic test in clinical practice forcommercial purposes only. Having that in mind, specificeducational programs and trainings are needed in order topromote more cost-conscious behavior of physicians.

We found that family history of breast and/or colorectalcancer was a significant predictor of positive attitude towards


Table 3: Sociodemographic and professional characteristics associated with knowledge on genetic testing for breast cancer (BRCA1/BRCA2mutations) and colorectal cancer (APCmutations).

Breast cancer Colorectal cancerOR 95% CI OR adj∗ 95% CI OR 95% CI OR adj𝛾 95% CI

GenderFemale 1.00 1.00 1.00 1.00Male 0.53 0.34–0.83 0.55 0.35–0.87 1.24 0.74–2.06 1.36 0.80–2.31

Age<28 1.00 1.00 1.00 1.0028-29 0.72 0.39–1.32 0.66 0.35–1.24 0.78 0.42–1.43 0.74 0.39–1.4130-31 0.70 0.36–1.37 0.62 0.31–1.26 0.32 0.14–0.73 0.25 0.10–0.61≥32 0.71 0.33–1.54 0.68 0.30–1.56 0.39 0.15–0.99 0.33 0.12–0.92

Personal or family history ofbreast or colon cancer

No 1.00 1.00 1.00 1.00Yes 1.40 0.77–2.57 1.21 0.65–2.25 0.98 0.52–1.86 0.91 0.47–1.77

Professional area∼

Medicine 1.00 1.00 1.00 1.00Surgery 0.60 0.31–1.17 0.80 0.39–1.64 1.10 0.50–2.40 1.24 0.55–2.80Others 1.16 0.72–1.87 1.20 0.74–1.96 0.90 0.52–1.55 0.88 0.50–1.55

Clinical activityNo 1.00 1.00 1.00 1.00Yes 0.94 0.59–1.50 0.97 0.60–1.57 0.93 0.55–1.58 1.02 0.59–1.76

Exposure to cancer genetictesting during graduate training

No 1.00 1.00 1.00 1.00Yes 1.73 1.06–2.82 1.72 1.05–2.82 2.01 1.05–3.84 2.08 1.07–4.03

Postgraduate training courses inepidemiology and EBM

No 1.00 1.00 1.00 1.00Yes 0.90 0.50–1.61 0.88 048–1.60 1.85 1.01–3.45 1.95 1.03–3.69

Patient request of cancer genetictests in the previous yeari

No 1.00 1.00 1.00 1.00Yes 2.15 1.05–4.38 1.84 0.89–3.83 0.90 0.42–1.92 0.84 0.38–1.84

Hours per week dedicated tocontinuing medical education<1 1.00 1.00 1.00 1.001–5 1.45 0.76–2.75 1.39 0.71–2.73 1.31 0.57–3.00 0.98 0.41–2.306–10 2.03 0.93–4.41 2.11 0.93–4.77 1.64 0.65–4.14 1.25 0.48–3.29>10 1.73 0.61–4.96 1.84 0.62–5.43 1.32 0.38–4.56 0.74 0.19–2.91

Promotional material aboutbreast or colon cancer received inthe previous year

No 1.00 1.00 1.00 1.00Yes 1.29 0.65–2.56 1.12 0.56–2.25 0.67 0.25–1.82 0.41 0.14–1.25

OR: odds ratio; CI: confidence interval; EBM: evidence based medicine.∗OR adjusted by professional area, exposure to cancer genetic testing during graduate training.𝛾OR adjusted by gender, postgraduate training courses about epidemiology and EBM.∼List of specializations according to each area is available in Supplementary file S1.iIncluded physicians with clinical activity.


Table 4: Attitudes of residents (𝑛 = 364) towards genetic testing for breast and colorectal cancer.

Number ofresponders tothe question

% of correctanswers CI 95%

(1) Genetic tests for breast cancer and colorectal cancer increase the chances of preventionopportunities (agree, uncertain, disagree) 355 85.1 80.9–88.6

(2) Genetic tests that able to identify an increased risk of developing breast or colorectal cancershould be performed even if there are no preventive and/or curative interventions of provenefficacy (agree, uncertain, disagree)

352 48.3 43.0–53.6

(3) Genetic tests for breast cancer or colorectal cancer should be performed only if economicalevaluations show cost effectiveness ratios favorable compared to alternative health interventions(agree, uncertain, disagree)

354 46.3 41.0–51.7

(4) Authoritative and evidence-based guidelines are needed for the appropriate use of genetictests for breast cancer and colorectal cancer (agree, uncertain, disagree) 355 92.4 89.1–94.9

(5) Genetic tests for breast and colorectal cancer should be performed without geneticcounseling informing patients of the benefits and risks of the tests (agree, uncertain, disagree) 355 76.9 72.2–81.2

(6) Genetic tests for breast and colorectal cancer can contribute efficaciously to healthpromotion and cancer prevention only if included in wider strategies taking into account theother available health interventions (agree, uncertain, disagree)

354 83.1 78.7–86.8

(7) The implementation of genetic tests for breast and colorectal cancer, being a medical matter,should not take into account ethical, legal and social implications (agree, uncertain, disagree) 356 75.3 70.4–80.0

Correct answers bolded.

Table 5: Self-estimated level of residents’ knowledge and training needs on genetic tests for breast and colorectal cancer (𝑛 = 364).

𝑛 %

How would you rate your level of knowledge on the appropriate use of genetics tests for cancer inclinical practice?

Poor 178 50.6Fair 143 40.6Good 29 8.2

Excellent 2 0.6Yes No

How important do you think it is to increase your knowledge about the use of genetics tests forcancer in clinical practice?

309(87.8%)

43(12.2%)

Do you find yourself qualified enough to prescribe genetic tests for cancer? 54(15.4%)

296(84.6%)

Should more time be dedicated to learning on genetic test during the medical studies? 289(82.3%)

62(17.7%)

Should more time be dedicated to learning on genetic test during the medical specialization? 263(74.7%)

89(25.3%)

Is there a need for specific postgraduate course on use of genetic testing for cancer? 229(65.4%)

121(34.6%)

genetic testing. This is to be expected, as personal experi-ences represent a major influence in determining individualattitudes, and those with positive family cancer history werepersonally motivated to find out more on genetic tests.

Residents in our study have deemed their knowledgeof genetic tests for breast and colorectal cancer insufficient.Insufficient level of knowledge on genetic test has beenpreviously self-reported amongmedical doctors several times[5, 15]. Our residents also reported a high level of interestin additional training in this field. As earlier studies alsoreported readiness of physicians to attend additional courseson genetic testing [5, 11, 15, 18], an organized approach togenomics education is needed in order to make the best useof available genetic testing resources.

Our study has some limitations. Firstly, we have con-ducted our research among residents working in the samehospital, so the results may not be reflecting the knowledgeand attitudes of the Italian residents’ population. Secondly,our nonresponse rate was relatively high; thus we do not havedata on age and gender structure of nonresponders. Althoughit is not likely that age could differ between responders andnonresponders, as most of the residents belong to the sameage group, the difference in gender structure may be an issueas we recognized gender to be factor for knowledge in somespecific fields. Nevertheless, our study is, to our knowledge,first in Europe reflecting the knowledge and attitudes ofresidents on genetic tests and can be valuable in assessingknowledge, attitudes, and educational needs of young doctorsin training on a wider scale.


In conclusion, knowledge of Italian residents on genetictests for colorectal cancer appears to be insufficient. There isa need for additional training in field of genetic tests duringgraduate and postgraduate studies as well as during spe-cializations. The principles of efficacy and cost-effectivenessin genetic testing are not fully accepted among residents.Specific educational programs are needed in order to promotemore cost-conscious behavior.

Conflict of Interests

The authors declare that there is no conflict of interestsregarding the publication of this paper.

Acknowledgments

The work was supported by the Agenzia Sanitaria RegionaleAbruzzo, Italy, 2009, within the project “I Test di suscettibilitagenetica al carcinoma mammario e colorettale: valutazionedell’ appropriatezza dello screening in soggetti ad alto rischioin alcune regioni Italiane” (Genetic Susceptibility Tests forColorectal and Breast Cancer: Assessment of appropriate-ness of Screening in High-Risk Individuals in Four ItalianRegions). The work of Dr. Nikola Panic was supported bythe ERAWEB project, funded with support of the EuropeanCommunity. The work of Emanuele Leoncini was supportedby Fondazione Veronesi. This work was partly supportedby the contribution of the Italian Association for CancerResearch (AIRC; Grant no. 14220).

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